Vitamin D receptor gene polymorphism in postmenopausal women of the Han and Uygur nationalities in China

Objective Polymorphysim in vitamin D receptor (VDR) gene has been reported to play a major role in variations for genetic regulation of bone mass. Its role within various ethnic populations is not clear. The purpose of this s tudy was to determine the frequencies of VDR genotypes in the Han and Uygur nationalities in China. Methods We analyzed the polymorphism of Bsm I restriction enzyme by PCR-RFL P technique in 162 healthy postmenopausal women of the Han nationality and 50 healthy postmenopausal women of the Uygur nationality in China. The geno type frequencies of VDR were calculated using Hardy-Weinberg equilibrium fo rmula. Results In the Han nationality, the bb, Bb, and BE genotype accounted for 9 1.36%, 8.64 % and 0%, respectively. In the Uygur nationality, frequencies w ere 74.00%, 18.00% and 8.00%, respectively. Conclusion There was a significant difference between the Han and Uygur nat ionalities in the frequency distribution of VDR genotype (P < 0.01). Compar ed with the Caucasian population in the United States, Australia and France , there was a similar value to Uygur nationality in the BE genotype. This i nvestigation gave us further evidence on the different etiopathology of ost eoporosis in various ethnic groups.